Linked Data
ClinVar Variation Id:
834928
ClinVar RCV Id:
RCV001035713
dbSNP Id:
rs567656128
ExAC:
12:42853915 T / C
gnomAD v2:
12-42853915-T-C
gnomAD v3:
12-42460113-T-C
gnomAD v4:
12-42460113-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.42460113T>C , CM000674.2:g.42460113T>C | GRCh38 |
| NC_000012.11:g.42853915T>C , CM000674.1:g.42853915T>C | GRCh37 |
| NC_000012.10:g.41140182T>C | NCBI36 |
| NG_012965.1:g.134658A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345127.9:c.2192A>G MANE Select | ENSP00000345064.3:p.Tyr731Cys | |
| ENST00000445766.7:c.2192A>G | ENSP00000398947.2:p.Tyr731Cys | |
| ENST00000455697.6:c.2192A>G | ENSP00000401060.1:p.Tyr731Cys | |
| ENST00000548696.6:c.2192A>G | ENSP00000448359.1:p.Tyr731Cys | |
| ENST00000552240.6:c.2192A>G | ENSP00000449819.1:p.Tyr731Cys | |
| ENST00000639566.1:c.2192A>G | ENSP00000492332.1:p.Tyr731Cys | |
| ENST00000639589.1:c.2192A>G | ENSP00000491051.1:p.Tyr731Cys | |
| ENST00000639958.1:c.2192A>G | ENSP00000492644.1:p.Tyr731Cys | |
| ENST00000640055.1:c.2192A>G | ENSP00000492763.1:p.Tyr731Cys | |
| ENST00000640132.1:c.2192A>G | ENSP00000491228.1:p.Tyr731Cys | |
| ENST00000640840.1:n.2019A>G | ||
| ENST00000345127.7:c.2192A>G | ENSP00000345064.3:p.Tyr731Cys | |
| ENST00000445766.6:c.2192A>G | ENSP00000398947.2:p.Tyr731Cys | |
| ENST00000455697.5:c.2192A>G | ENSP00000401060.1:p.Tyr731Cys | |
| ENST00000548696.5:c.2192A>G | ENSP00000448359.1:p.Tyr731Cys | |
| ENST00000552240.5:c.2192A>G | ENSP00000449819.1:p.Tyr731Cys | |
| NM_001144881.1:c.2192A>G | NP_001138353.1:p.Tyr731Cys | |
| NM_001144882.1:c.2192A>G | NP_001138354.1:p.Tyr731Cys | |
| NM_001144883.1:c.2192A>G | NP_001138355.1:p.Tyr731Cys | |
| NM_153026.2:c.2192A>G | NP_694571.2:p.Tyr731Cys | |
| XM_011537946.1:c.2192A>G | XP_011536248.1:p.Tyr731Cys | |
| XM_011537947.1:c.2192A>G | XP_011536249.1:p.Tyr731Cys | |
| XM_011537947.2:c.2192A>G | XP_011536249.1:p.Tyr731Cys | |
| XM_017018838.1:c.2192A>G | XP_016874327.1:p.Tyr731Cys | |
| XM_017018839.1:c.2192A>G | XP_016874328.1:p.Tyr731Cys | |
| XM_017018840.1:c.2192A>G | XP_016874329.1:p.Tyr731Cys | |
| NM_153026.3:c.2192A>G MANE Select | NP_694571.2:p.Tyr731Cys | |
| NM_001144881.2:c.2192A>G | NP_001138353.1:p.Tyr731Cys | |
| NM_001144882.2:c.2192A>G | NP_001138354.1:p.Tyr731Cys | |
| NM_001144883.2:c.2192A>G | NP_001138355.1:p.Tyr731Cys |